MEDICINE II

Congenital Heart Disease

Bernardo D. Morante Jr. MD
2nd Shifting – 2008 Sept 17
The black swindler

1 Sinus venosus
Normal Cardiovascular system 2 Ostium secundum
• The right side and the left side of the heart are 3 Inferior vena caval
anatomically and functionally separated by the 4 Ostium Primum
interatrial and interventricular septa.
• There are no connections between major arteries Shunts
and veins. • The severity of the congenital defect is measured
• Only capillary connections in the lungs and by the degree of shunting of the blood, the Qp/Qs
ratio.
systemic circulation exist.
• Qp = the pulmonary blood flow
Factors contributing to Congenital cardiac anomalies
• Qs = the systemic blood flow
• Drugs ex. Thalidomide, Dilantin, Lithium
• Alcohol and illegal drugs Types of congenital cardiac anomalies
• Chromosomal abnormalities ex. Trisomy 21 (Down’s
syndrome) 1. With shunt
• Infections during pregnancy such as Rubella a. Right to left shunt _cyanotic
arterial hypoxemia is present
• Connective tissue disorders
b. Left to right shunt_ acyanotic
• Inborn errors of metabolism step up in O2 content on the right side of the
• Family history of congenital anomalies heart
2. Without shunts
Shunts
• What are shunts? Acyanotic congenital anomalies (L-R shunt)
1. Intracardiac shunts
• They are anomalous connections between the right a. atrial septal defect (ASD)
side and left side of the heart or between the b. ventricular septal defect (VSD)
venous and arterial circulation
2. Extracardiac shunts
Direction of Shunts a. Patent ductus arteriosus (PDA)
Since pressures in the left side of the heart are usually b. Peripheral arteriovenous fistulas
higher than the right side, in shunts the blood flows from left c. Partial anomalous venous return
to right. However right to left shunts occur when the
following conditions are present: Congenital Cardiac Anomalies without shunts
1. Valvular anomalies
• Severe pulmonary hypertension
2. Ebstein anomaly*
• Right ventricular outflow obstruction as in 3. Cor tri-atriatum*
Tetralogy of Fallot 4. Coarctation of the Aorta
• Obstruction to the inflow of blood as in tricuspid 5. Idiopathic pulmonary hypertension
atresia 6. Cardiomyopathy
7. Dextrocardia
• Pulmonary arteriovenous fistula *Maybe associated with shunts
• Anomalous origin of the major arteries
The pulmonary circulation in congenital heart disease
1. In left to right shunts the arterial vascularity is
ATRIAL SEPTAL DEFECTS increased
2. In right to left shunts arterial vascularity is
diminished
3. In congenital anomalies without shunts the arterial
vascularity is normal
4. When congestive heart failure occurs there is an
increase in venous vascularity.

Atrial Septal Defects

Types:
1. Patent foramen ovale
2. Ostium secundum
3. Sinus venosus
4. Inferior vena caval
5. Ostium primum
6. Single atrium

Symptoms of acyanotic congenital heart diseases

• Easifatigability
• Dyspnea
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JOEL GLENN TONI
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Palpitations/ syncope
•
• Frequent respiratory infections
• A blowing systolic murmur of TR at the lower LSB
• Exertional cyanosis may occur when shunts are which increases on inspiration
large Diagnostics in ostium primum defect
EKG:
When the left to right shunt is small _ Qp/Qs ratio of 1.5 or • Incomplete RBBB/ occasionally complete RBBB
less, patient is usually aymptomatic. • Left axis deviation
• 1st degree AV block
Chest x-ray:
SECUNDUM ATRIAL SEPTAL DEFECT
1. LV enlargement
2. Bi-atrial enlargement
KEY PE findings:
• SEM at the pulmonic area that diminishes with
Valsalva maneuver
• Wide fixed splitting of S2
• If the left to right shunt is big there will be a
diastolic flow murmur at the tricuspid area Echocardiography in ostium primum defect
• Presence of atrial septal defect low in the atrium
Diagnostics in Secundum ASD with or without VSD
EKG: • Cleft mitral / tricuspid valve
• Incomplete RBBB _ rsR pattern
• Right axis deviation • Blood flow from LA to RA on the doppler study
Chest X-ray: Cardiac catheterization in ostium primum defect
• Right heart border will be prominent suggesting RA • Step up in O2 content or saturation at the atrial
enlargement and ventricular level
• Obliteration of the retrosternal space in the lateral
view due to RV dilatation
• On angiography, flow from LV to RV is noted
LV angiogram in ostium primum defect
• Hilar blood vessels will be enlarged with Note: may moving diagram sa slide
prominence of the MPA. The arterial vessels will Therapy
extend peripherally • Treatment of CHF
Echocardiogram in Secundum ASD • Control arrhythmias
• Dilated right ventricle with paradoxical septal
motion
• Surgical repair
• Drop out of echoes in the septal region (septal
defect) in the subxyphoid view VENTRICULAR SEPTAL DEFECT
• Blood flow from LA to RA through the shunt will be • Is a cardiac anomaly where part of the
observe on the doppler study interventricular septum is absent.
• On air contrast study a filling defect will be
observed at the site of the septal defect Types:
Cardiac Catheterization in secundum ASD • VSD over the crista supraventricularis
• Catheter can be passed through the septal defect • VSD below the crista supraventricularis
• Step up in O2 content or saturation at the atrial • At the muscular interventricular septum
level
• Qp/Qs ratio of 1.5 or greater. Pathophysiology of VSD
Therapy • If the defect is < 1 cm2 it is usually well tolerated
• Medical treatment for CHF • Spontaneous closure may occur
• Control arrhythmias
• Transcatheter closure of the ASD • Defects greater than 2 cm2 results in biventricular
volume overload
• Surgical repair
• Large VSD develops Eisenmenger syndrome early
OSTIUM PRIMUM DEFECT or ENDOCARDIAL CUSHION Key PE findings in VSD
DEFECT • A thrill at LSB with a harsh holosystolic murmur
• Wide splitting of S2 that varies with respiration
Pathology: • S3 at the apex
• a septal defect low in the atrium
• Cleft mitral or tricuspid valve is present Diagnostics in VSD
• a VSD may also be present (common AV canal). EKG:
• CHF appear early • Maybe normal in small VSD
• More rapid development of pulmonary • Presence of LVH, LAH, left axis deviation
hypertension Chest x-ray:
• Associated with Down’s syndrome • Normal in small VSD
Key PE findings • RV and LV enlargement
• Pansystolic murmur at LSB representing the VSD • MPA enlarged with plethora of the pulmonary
• SEM at the pulmonic area vessels
Echocardiogram in VSD
• A holosystolic murmur of MR at the apex which
• The defect in the interventricular septum can be
radiates to the axilla
visualized

• In the color doppler, there is a left to right flow
across the interventricular septum
Cardiac catheterization in VSD
• Step up in O2 content or O2 saturation in the RV
• On LV angiography, x-ray contrast crosses to the
right ventricle
Therapy:
Surgical closure
PATENT DUCTUS ARTERIOSUS
Definition: It is the persistence of the ductus arteriosus
beyond twenty days in infancy
Types of PDA
1. PDA whose pulmonary pressures never return to
normal
2. PDA whose pressure return to normal in infancy but
the pulmonary pressures rises as the child grows.
Key PE finding in PDA
• A thrill and a continuous “machinery” like murmur
at the upper LSB or left infraclavicular region.
Diagnostics in PDA
EKG: LVH and LAH
Chest x-ray:
• Cardiomegaly with prominence of the apex
suggesting LV dilatation
Echocardiogram in PDA
• Dilated main pulmonary artery
• Left ventricular volume overload
• On the doppler, blood flow will be seen from the
aorta to the pulmonary artery
Cardiac catheterization in PDA
• There is a step up in O2 saturation in the
pulmonary artery
• On aortic angiography, x-ray contrast flows from
the aorta to the pulmonary artery
Therapy of PDA
• Prostaglandin
• Transcatheter closure of the PDA
• Surgical ligation of the PDA
EISENMENGER SYNDROME
SECONDARY PULMONARY HYPERTERNSION
• In large left to right shunts, secondary pulmonary
hypertension eventually develops.
• When the pulmonary pressures equals or exceeds
systemic arterial pressure, this is known as
Eisenmenger syndrome.
• Bi-directional shunting usually exist
PE findings in Eisenmenger syndrome
• Visible or palpable pulmonary pulsation
• Sternal lifting or subxyphoid pulsation suggesting
RVH
• P2 is increased, narrowed splitting or single S2
• The systolic murmurs of ASD and VSD will diminish
• The continuous murmur of PDA may become a
systolic murmur only
• TR and PR murmurs (Graham Steele) will be heard.
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• Peripheral cyanosis
Diagnostics in Eisenmenger syndrome
EKG: RVH, RAH, right axis deviation
Chest x-ray:
• Prominent right heart border
• Obliteration of the retrosternal space
• Prominent MPA and hilar vessels but the peripheral
vessels will diminished
Echocardiogram:
• RVH and RAH
• Tricuspid regurg and pulmonic regurg on the
doppler
• Very high pulmonary pressures
Implications on the therapy of congenital anomalies
• When severe pulmonary hypertension develops,
surgical correction of the congenital anomaly is no
longer feasible.
• Most vasodilators are not effective in lowering
pulmonary pressures
• The following have been shown to benefit patients:
1. Calcium channel blocker_ Nifedipine
2. Prostacyclin _ epoprostenol
3. Endothelin receptor antagonist_ bosentan
4. sildenafil (Viagra)
• Heart-lung transplant
CONGENITAL ARTERIO-VENOUS FISTULA
• It is an abnormal communication between a large
peripheral artery and vein.
Common sites:
1. Lower extremity at the ilio-femoral region
2. Hemangiomas in the liver and lungs (Hereditary
telangiectasia)
• If the shunt is small, patient is asymptomatic.
Otherwise signs of high output failure maybe
present.
PE findings in AV fistulas
• Systolic hypertension and wide pulse pressure
• tachycardia
• Systolic pulmonic flow murmur
• Erythema and warmth in the involved extremity
• Presence of a thrill and continuous murmur at the
site of the fistula.
• Branham’s sign: on compression of the fistula the
heart rate will drop
• Quinke’s sign
Diagnostics:
• EKG: sinus tachycardia, LVH
• Chest x-ray: Cardiomegaly
• Echocardiogram: bi-ventricular dilatation
Therapy: Ligation of the fistula
COARCTATION OF THE AORTA
• It is a constriction in the aorta usually after the
origin of left subclavian artery
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• It presents as hypertension. The symptoms and

findings depends on the severity of the coarctation
and site.

Pathophysiology in coarctation of the aorta

• The hypertension is due to the gradient across the
coarctation
• And the response of the renin- angiotensin-
aldosterone system

Symptoms of Coarctation of the aorta

• Headaches
• Leg fatigue and intermittent claudication
• Signs of CHF due to uncontrolled hypertension

PE findings in coarctation of the aorta

• Hypertension with differential BP between the
upper and lower extremity
• Thrills at the supra sternal notch
• Collateral vessels in the scapula
• Systolic ejection murmur in the interscapular region
• A systolic murmur is heard in the 2nd RSB if a
concomitant bicuspid aortic valve is present

Diagnostics in coarctation of the aorta

EKG : LVH
Chest x-ray:
• the 3 sign _ dilated aorta and cardiomegaly
• Rib notching posteriorly

Echocardiogram:
• The coarctation maybe visualized depending on
the site.
• The pressure gradient can be measured by doppler.
CT scan or MRI angiogram: the presence and the site of
the coarctation is confirmed.

Complications
• CHF
• Aortic rupture
• Bacterial endocarditis
• CVA due to rupture of Berry aneurysm

Therapy
• Antihypertensive therapy
• Treatment of CHF
• Balloon dilation
• Surgery

TETRALOGY OF FALLOT

Pathological findings:
• VSD
• Infundibular stenosis
• Over riding of the aorta
• RVH

EIBSTEIN ANOMALY
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